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PKU Test for infants to detect phenylketonuria, a genetic disorder that can cause severe mental retardation

Institution:

Jacobs School of Medicine and Biomedical Sciences, the University at Buffalo

Researchers:

Robert Guthrie, MD, PhD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of microbiology and pediatrics

Impact:

Phenylketonuria (PKU) is a genetic disorder characterized by an inability of the body to break down the amino acid phenylalanine. Recognizing that the earlier treatment begins for PKU, the better the prognosis for intellectual growth, Guthrie developed a way to collect discs of whole blood from infants: sticking the baby’s heel and blotting the emerging drops of blood with filter paper. Hospitals were able to quickly and inexpensively implement PKU screening on a large scale, and in time, the filter test—which is estimated to have spared 300,000 children from the effects of mental disabilities—came to be used by all 50 states to screen for PKU. Furthermore, Guthrie’s dried-blood spot testing method spread to almost every field involving blood collection and has made possible the multiple newborn screening routinely conducted today.

Timeline:

Dr. Guthrie developed the test in 1957, and the first screening took place in 1961 in Jamestown, New York.